Evidence for a founder effect of the MPL-S505N mutation in eight Italian pedigrees with hereditary thrombocythemia

BACKGROUND: Hereditary thrombocythemia is a rare disease characterized by increased megakaryopoiesis and overproduction of platelets. Germ line mutations have been identified in the genes for thrombopoietin (THPO) and its receptor, MPL. A clustering of familial cases with the MPL-G1073A mutation tha...

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Detalhes bibliográficos
Principais autores: Liu, Kun, Martini, Maurizio, Rocca, Bianca, Amos, Christopher I., Teofili, Luciana, Giona, Fiorina, Ding, Jianmin, Komatsu, Hirokazu, Larocca, Luigi M., Skoda, Radek C.
Formato: Artigo
Idioma:Inglês
Publicado em: Ferrata Storti Foundation 2009
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2754952/
https://ncbi.nlm.nih.gov/pubmed/19608689
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2009.005918
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